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G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:817853 |
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NCBI chr 8:122,963,718...123,036,326
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12022040 |
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NCBI chr 3:124,406,783...124,442,220
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G |
Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Corneal opacity |
ClinVar |
PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 |
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NCBI chr12:1,560,341...1,574,252
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G |
Slc4a4 |
solute carrier family 4 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
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NCBI chr14:19,125,394...19,577,379
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|
G |
Tnfaip6 |
TNF alpha induced protein 6 |
treatment |
ISO |
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RGD |
PMID:20837529 |
RGD:7777186 |
NCBI chr 3:56,911,398...56,930,797
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G |
Kera |
keratocan |
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ISO |
autosomal recessive cornea plana, OMIM:217300 |
RGD |
PMID:10802664 |
RGD:1600335 |
NCBI chr 7:32,397,382...32,404,837
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
DNA:deletions:cds: ClinVar Annotator: match by term: Corneal clouding cutis laxa mental retardation | ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) |
ClinVar RGD |
PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 PMID:22411858 PMID:23963297 PMID:24913064 PMID:25077174 PMID:25326637 PMID:25741868 PMID:26026163 PMID:26297557 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28492532 PMID:28567303 PMID:28604674 PMID:29754261 PMID:29915212 PMID:30244529 PMID:31130284 PMID:31402623 PMID:31742715 PMID:32017139 PMID:32371413 PMID:32798076 PMID:36067040 PMID:37119015 PMID:24913064 PMID:26320891 More...
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RGD:13434922, RGD:13434923 |
NCBI chr 1:249,325,082...249,357,383
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human) ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A |
ClinVar OMIM RGD |
PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 PMID:17576681 PMID:18478038 PMID:21739576 PMID:22411858 PMID:23963297 PMID:24767728 PMID:24913064 PMID:25077174 PMID:25326637 PMID:25741868 PMID:26026163 PMID:26297557 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28492532 PMID:28567303 PMID:28604674 PMID:29754261 PMID:29915212 PMID:30244529 PMID:31130284 PMID:31402623 PMID:31742715 PMID:32017139 PMID:32371413 PMID:32798076 PMID:36067040 PMID:37119015 PMID:25077174 More...
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RGD:13439710 |
NCBI chr 1:249,325,082...249,357,383
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G |
Pycr1 |
pyrroline-5-carboxylate reductase 1 |
|
ISO |
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition |
OMIM ClinVar |
PMID:4076251 PMID:9536098 PMID:16199547 PMID:16233902 PMID:17576681 PMID:18348262 PMID:19648921 PMID:21567914 PMID:22052856 PMID:23406396 PMID:23963297 PMID:24035636 PMID:25741868 PMID:25865492 PMID:28454995 PMID:28492532 PMID:30138938 PMID:30450527 PMID:32860008 More...
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NCBI chr10:105,917,732...105,922,658
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G |
Alpk1 |
alpha-kinase 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:218,801,425...218,924,013
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G |
Ank2 |
ankyrin 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:218,052,555...218,628,414
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G |
Ap1ar |
adaptor-related protein complex 1 associated regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,276,631...216,309,020
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G |
Fam241a |
family with sequence similarity 241 member A |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:216,344,563...216,375,193
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G |
Hmgn2 |
high mobility group nucleosomal binding domain 2 |
|
ISS |
OMIM:180500 |
MouseDO |
|
|
NCBI chr 5:146,192,126...146,195,580
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:215,997,641...216,012,833
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G |
Neurog2 |
neurogenin 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,092,709...216,095,276
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G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 |
OMIM ClinVar MouseDO |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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NCBI chr 2:220,391,417...220,411,588
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G |
Prdm5 |
PR/SET domain 5 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
|
NCBI chr 4:95,075,736...95,237,921
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G |
Tifa |
TRAF-interacting protein with forkhead-associated domain |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:216,257,926...216,267,635
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|
G |
Zgrf1 |
zinc finger, GRF-type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,012,911...216,075,608
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G |
Arhgap35 |
Rho GTPase activating protein 35 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 PMID:36450800 |
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NCBI chr 1:77,202,436...77,319,298
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 |
|
NCBI chr15:22,098,191...22,113,145
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G |
Col4a1 |
collagen type IV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 More...
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|
NCBI chr16:84,885,597...84,996,482
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
DNA:snp:cds:p.G61E (human) ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar RGD |
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12525557 PMID:14507861 PMID:15037581 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30788381 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32832252 PMID:32883240 PMID:34956319 PMID:36239105 PMID:38219857 PMID:15621878 More...
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RGD:7800682 |
NCBI chr 6:21,093,927...21,103,091
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G |
Dab1 |
DAB adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr 5:118,392,953...119,513,625
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 |
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NCBI chr 3:92,162,271...92,385,251
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G |
Ephb2 |
Eph receptor B2 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr 5:154,179,065...154,360,459
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr16:47,177,253...47,296,261
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G |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 2:121,927,266...122,056,700
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:21931569 PMID:26893459 PMID:28492532 |
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NCBI chr 5:97,321,266...97,469,523
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G |
Pax6 |
paired box 6 |
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ISO ISS |
DNA:snp:cds:pN64K (mouse) ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis OMIM:604229 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12868034 PMID:15086958 PMID:15579687 PMID:16199547 PMID:17417613 PMID:18483559 PMID:18776953 PMID:20577777 PMID:22361317 PMID:22692063 PMID:24281366 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27878435 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:32360764 PMID:32499604 PMID:34101622 PMID:34415986 PMID:19345209 More...
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RGD:8551891 |
NCBI chr 3:92,128,772...92,157,022
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G |
Pitrm1 |
pitrilysin metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
|
NCBI chr17:63,795,670...63,827,317
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G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
|
NCBI chr 2:220,391,417...220,411,588
|
|
G |
Prpf8 |
pre-mRNA processing factor 8 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
|
NCBI chr10:60,331,494...60,354,606
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:1347096 PMID:26467025 PMID:26893459 PMID:28492532 PMID:30762128 PMID:35170016 More...
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NCBI chr17:1,548,449...1,613,461
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G |
Rarg |
retinoic acid receptor, gamma |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
|
NCBI chr 7:133,367,833...133,390,301
|
|
|
G |
B3glct |
beta 3-glucosyltransferase |
|
ISO ISS |
OMIM:261540 ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532 PMID:32204707 More...
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|
NCBI chr12:5,255,521...5,346,807
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29584859 |
|
NCBI chr 1:244,584,477...244,590,578
|
|
|
G |
Lpcat2 |
lysophosphatidylcholine acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Winchester-Grossman syndrome |
ClinVar |
|
|
NCBI chr19:14,088,389...14,152,742
|
|
G |
Mmp14 |
matrix metallopeptidase 14 |
|
ISO |
ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 PMID:29741626 More...
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|
NCBI chr15:27,887,795...27,897,020
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Winchester-Grossman syndrome |
ClinVar |
PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 PMID:20617897 PMID:20673868 PMID:21421877 PMID:23313298 PMID:23378725 PMID:25600631 PMID:25704319 PMID:25741868 PMID:27182040 PMID:28492532 More...
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|
NCBI chr19:30,327,643...30,355,856
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